Galactosialidosis
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Lysosomal disease. Autosomal recessive transmission of a mutation of the gene coding for cathepsin A on locus 20q13. Cathepsin A is a protective protein that binds to β-galactosidase and to α-neuraminidase in a multienzyme complex providing activity and stability in lysosomes; when cathepsin A is absent, there is intralysosomial accumulation of mucopolysaccharides. This causes a Hurler-like facies, hepatosplenomegaly, skeletal dysplasia, seizures, ataxia and cardiac anomalies (valvular lesions, cardiomyopathy).
There are 3 clinical forms;
- infantile: edematous syndrome (sometimes hydrops fetalis), facial dysmorphism, skeletal and ocular anomalies (cherry-red spot, early blindness), hepatosplenomegaly, neurological impairment, renal failure. severe evolution and early mortality;
- late infantile: facial dysmorphism, mental deterioration of varying importance
- juvenile: facial dysmorphism, progressive neurological impairment, bone and eye damage (cherry red spot and opacities), angiokeratomas.
Anesthetic implications:
preoperative echocardiography. Difficult intubation (similar to mucopolysaccharidoses).
References :
- Friedhoff RJ, Rose SH, Brown MJ, Long TR, Wass CT.
Galactosialidosis : a unique disease with significant implications during perioperative anesthesia management.
Anesth Analg 2003; 97: 53-5.
Updated: April 2019